Pars Genome Lab, PARSGENOME

General information

Pars Genome Lab, PARSGENOME

No.2, Jahanshahr St, Beheshti Ave, Tehran, Iran
Karaj
Tehran
Iran - 3144816818
http://parsgenomelab.com
Organization ID: 507685

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 594

Gene

GeneSubmissionsLast Updated
ABCC877Jul 10, 2021
ACADVL1Jun 12, 2021
ACSF31May 26, 2021
ADA1May 26, 2021
ADAMTS21Jun 12, 2021
AGPS1Jun 12, 2021
ALMS13Jun 12, 2021
AOPEP1May 26, 2021
ARSA6Jun 23, 2021
ARSB6Jul 3, 2021
ASS11May 26, 2021
ATM2Jun 12, 2021
ATP6V1B11Jun 12, 2021
BBS101Jul 12, 2021
BBS128Jun 23, 2021
BBS21May 26, 2021
BLM3Jun 12, 2021
BRCA21Aug 9, 2021
BTD1May 26, 2021
C10orf1052Jun 12, 2021
C11orf652Jun 12, 2021
CAPN34Jun 12, 2021
CDH234Jun 12, 2021
CEP2902Jun 12, 2021
CFTR6Jun 12, 2021
CHKB1Jul 26, 2021
CHKB-CPT1B1Jul 26, 2021
CLRN15Jun 23, 2021
COL4A31May 26, 2021
CPT1A1May 26, 2021
CPT22May 26, 2021
CRB12May 26, 2021
CYP27A11Jun 12, 2021
DCLRE1C2Jun 12, 2021
DHCR71May 26, 2021
DMD5Jun 12, 2021
DNAH570Jun 23, 2021
DNAI21Jun 12, 2021
DYSF5Jun 12, 2021
ECM11Aug 9, 2021
EIF2B51Jun 23, 2021
EMD1Jun 12, 2021
ETFDH2Jun 23, 2021
EVC29Jun 23, 2021
EYS5Jun 12, 2021
FANCA1Jun 12, 2021
FANCC1May 26, 2021
FBN11Sep 8, 2021
GAA2Jun 12, 2021
GALT1Jun 12, 2021
GATAD11May 26, 2021
GBE111Jun 23, 2021
GCDH1May 26, 2021
GFM11Jun 12, 2021
GJB213Jul 28, 2021
GLB130Jun 23, 2021
GNS3Jul 12, 2021
HADHA1Jun 12, 2021
HLCS1May 26, 2021
HOGA11Jun 12, 2021
HSD3B21May 26, 2021
IDUA1Jun 12, 2021
KCNJ1114Jul 10, 2021
LAMB31Jun 12, 2021
LDLR1Jun 12, 2021
LOC1074575851Jun 23, 2021
LOC11012147112Jul 10, 2021
LOC1116744721Jun 12, 2021
LOC1116744771May 26, 2021
LOC1118119651Jun 2, 2021
LOXHD11Jun 12, 2021
MCCC111Jun 23, 2021
MCCC212Jul 3, 2021
MCOLN11May 26, 2021
MFF-DT1May 26, 2021
MFSD81Jun 12, 2021
MKS11Jun 12, 2021
MMAA4Jun 23, 2021
MMAB6Jul 12, 2021
MMACHC1May 26, 2021
MMUT9Jul 3, 2021
MPI1Jun 12, 2021
MTHFR1May 26, 2021
MTRR11Jul 3, 2021
MTTP1May 26, 2021
MYO7A3Jun 12, 2021
NEB4Jun 12, 2021
NF12Aug 30, 2021
NPC11Jun 12, 2021
NPHS12Jun 12, 2021
NTRK12May 26, 2021
OTC1Jun 12, 2021
PAH14Jul 12, 2021
PCCA9Jul 12, 2021
PCDH155Jun 12, 2021
PDHB7Jun 23, 2021
PEX11May 26, 2021
PEX22Jun 12, 2021
PFKM15Jul 12, 2021
PHF31May 26, 2021
PKD11Jul 26, 2021
PKHD157Jul 3, 2021
POMGNT12May 26, 2021
PYGM1May 26, 2021
RAG11Jun 2, 2021
RARS21Jun 12, 2021
RIF12Jun 12, 2021
RPE651May 26, 2021
SACS5Jun 12, 2021
SGCA1May 26, 2021
SGCB2Jun 23, 2021
SGCG6Jul 12, 2021
SLC12A62Jun 12, 2021
SLC22A59Jun 23, 2021
SLC25A131Jun 12, 2021
SLC26A41May 26, 2021
SLC39A41Jun 12, 2021
SLC7A71Jun 12, 2021
STAR1Jun 12, 2021
SUMF17Jun 23, 2021
SYCE21May 26, 2021
TCIRG11Jun 12, 2021
TENM41Aug 9, 2021
TH1Jun 12, 2021
TMPPE4Jun 23, 2021
TPP11Jun 12, 2021
TSPAN11May 26, 2021
TYMP1Jun 12, 2021
USH1C1Jun 12, 2021
USH2A5Jun 12, 2021
USH2A-AS11May 26, 2021
VPS13B2Jun 12, 2021

Condition

NameSubmissionsLast Updated
3 Methylcrotonyl-CoA carboxylase 1 deficiency11Jun 23, 2021
3 beta-Hydroxysteroid dehydrogenase deficiency1May 26, 2021
3-methylcrotonyl CoA carboxylase 2 deficiency12Jul 3, 2021
Abetalipoproteinaemia1May 26, 2021
Adult polyglucosan body disease5Jun 23, 2021
Agenesis of the corpus callosum with peripheral neuropathy2Jun 12, 2021
Alport syndrome, autosomal recessive1May 26, 2021
Alstrom syndrome3Jun 12, 2021
Ataxia-telangiectasia syndrome2Jun 12, 2021
Autosomal recessive DOPA responsive dystonia1Jun 12, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2D1May 26, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2E2Jun 23, 2021
Autosomal recessive osteopetrosis 11Jun 12, 2021
Bardet-Biedl syndrome 101Jul 12, 2021
Bardet-Biedl syndrome 128Jun 23, 2021
Bardet-Biedl syndrome 131Jun 12, 2021
Bardet-Biedl syndrome 21May 26, 2021
Biotinidase deficiency1May 26, 2021
Bloom syndrome3Jun 12, 2021
Breast-ovarian cancer, familial 21Aug 9, 2021
Carnitine palmitoyltransferase 1A deficiency1May 26, 2021
Carnitine palmitoyltransferase II deficiency, infantile2May 26, 2021
Ceroid lipofuscinosis neuronal 21Jun 12, 2021
Charlevoix-Saguenay spastic ataxia5Jun 12, 2021
Cholestanol storage disease1Jun 12, 2021
Cholesterol monooxygenase (side-chain cleaving) deficiency1Jun 12, 2021
Ciliary dyskinesia, primary, 370Jun 23, 2021
Ciliary dyskinesia, primary, 91Jun 12, 2021
Citrullinemia type I1May 26, 2021
Citrullinemia, adult-onset type II1Jun 12, 2021
Cobalamin C disease1May 26, 2021
Cohen syndrome2Jun 12, 2021
Combined malonic and methylmalonic aciduria1May 26, 2021
Combined oxidative phosphorylation deficiency 11Jun 12, 2021
Cystic fibrosis6Jun 12, 2021
Deafness, autosomal dominant 3a6Jul 28, 2021
Deafness, autosomal recessive 1A7Jul 12, 2021
Deafness, autosomal recessive 771Jun 12, 2021
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Jun 12, 2021
Duchenne muscular dystrophy5Jun 12, 2021
Dyschromatosis universalis hereditaria 31Sep 22, 2021
Ehlers-Danlos syndrome dermatosparaxis type1Jun 12, 2021
Ellis-van Creveld syndrome29Jun 23, 2021
Emery-Dreifuss muscular dystrophy 1, X-linked1Jun 12, 2021
Familial hypercholesterolemia 11Jun 12, 2021
Fanconi anemia, complementation group A1Jun 12, 2021
Fanconi anemia, complementation group C1May 26, 2021
Finnish congenital nephrotic syndrome2Jun 12, 2021
Geleophysic dysplasia 21Sep 8, 2021
Glutaric aciduria, type 11May 26, 2021
Glycogen storage disease, type II2Jun 12, 2021
Glycogen storage disease, type IV6Jun 23, 2021
Glycogen storage disease, type V1May 26, 2021
Glycogen storage disease, type VII15Jul 12, 2021
Hereditary acrodermatitis enteropathica1Jun 12, 2021
Hereditary insensitivity to pain with anhidrosis2May 26, 2021
Holocarboxylase synthetase deficiency1May 26, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1May 26, 2021
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type11Jul 3, 2021
Hurler syndrome1Jun 12, 2021
Hyperinsulinemic hypoglycemia, familial, 119Jul 10, 2021
Hyperinsulinemic hypoglycemia, familial, 24Jul 10, 2021
Infantile GM1 gangliosidosis15Jun 23, 2021
Joubert syndrome 52Jun 12, 2021
Junctional epidermolysis bullosa gravis of Herlitz1Jun 12, 2021
Leber congenital amaurosis 21May 26, 2021
Leber congenital amaurosis 82May 26, 2021
Leucine-induced hypoglycemia19Jul 10, 2021
Leukoencephalopathy with vanishing white matter1Jun 23, 2021
Limb-girdle muscular dystrophy, type 2A4Jun 12, 2021
Limb-girdle muscular dystrophy-dystroglycanopathy, type C31May 26, 2021
Lipid proteinosis1Aug 9, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency1Jun 12, 2021
Lysinuric protein intolerance1Jun 12, 2021
MPI-CDG1Jun 12, 2021
Megaconial type congenital muscular dystrophy1Jul 26, 2021
Metachromatic leukodystrophy6Jun 23, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency9Jul 3, 2021
Microphthalmia, isolated, with coloboma 71Sep 22, 2021
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Jun 12, 2021
Miyoshi muscular dystrophy 15Jun 12, 2021
Mucolipidosis type IV1May 26, 2021
Mucopolysaccharidosis type 66Jul 3, 2021
Mucopolysaccharidosis, MPS-III-D3Jul 12, 2021
Mucopolysaccharidosis, MPS-IV-B15Jun 23, 2021
Multiple acyl-CoA dehydrogenase deficiency2Jun 23, 2021
Multiple sulfatase deficiency7Jun 23, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A31May 26, 2021
Nemaline myopathy 24Jun 12, 2021
Neurofibromatosis, type 12Aug 30, 2021
Neuronal ceroid lipofuscinosis 71Jun 12, 2021
Niemann-Pick disease type C11Jun 12, 2021
Ornithine carbamoyltransferase deficiency1Jun 12, 2021
Pendred syndrome1May 26, 2021
Permanent neonatal diabetes mellitus 23Jul 10, 2021
Permanent neonatal diabetes mellitus 320Jul 10, 2021
Peroxisome biogenesis disorder 1A (Zellweger)1May 26, 2021
Peroxisome biogenesis disorder 5a (zellweger)2Jun 12, 2021
Phenylketonuria14Jul 12, 2021
Polycystic kidney disease 457Jul 3, 2021
Polycystic kidney disease, adult type1Jul 26, 2021
Pontocerebellar hypoplasia type 61Jun 12, 2021
Primary hyperoxaluria, type III1Jun 12, 2021
Propionic acidemia9Jul 12, 2021
Pseudohyperkalemia, familial, 2, due to red cell leak1Sep 22, 2021
Pyruvate dehydrogenase E1-beta deficiency7Jun 23, 2021
Renal carnitine transport defect9Jun 23, 2021
Renal tubular acidosis with progressive nerve deafness1Jun 12, 2021
Retinitis pigmentosa 255Jun 12, 2021
Rhizomelic chondrodysplasia punctata type 31Jun 12, 2021
Severe autosomal recessive muscular dystrophy of childhood - North African type6Jul 12, 2021
Severe combined immunodeficiency due to ADA deficiency1May 26, 2021
Severe combined immunodeficiency due to DCLRE1C deficiency2Jun 12, 2021
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Jun 2, 2021
Smith-Lemli-Opitz syndrome1May 26, 2021
Transient neonatal diabetes mellitus 219Jul 10, 2021
Transient neonatal diabetes mellitus 33Jul 10, 2021
Tremor, hereditary essential, 51Aug 9, 2021
Usher syndrome type 13Jun 12, 2021
Usher syndrome type 1D4Jun 12, 2021
Usher syndrome type 1F5Jun 12, 2021
Usher syndrome, type 1C1Jun 12, 2021
Usher syndrome, type 2A5Jun 12, 2021
Usher syndrome, type 3A5Jun 23, 2021
Very long chain acyl-CoA dehydrogenase deficiency1Jun 12, 2021
Vitamin B12-responsive methylmalonic acidemia type cblA4Jun 23, 2021
Vitamin B12-responsive methylmalonic acidemia type cblB6Jul 12, 2021
Support Center